Information on AGM12

Basic details

Name: Agammaglobulinemia 12 | Acronym: AGM12
Alt. names: p110-delta deficiency | deficiency of p110delta | PIK3CD deficiency | Immunodeficiency 14B

Gene: PIK3CD | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2018

Last updated on: 2023-07-26 09:15:50 by Andrés Caballero-Oteyza

OMIM: 619281

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

An autosomal recessive form of agammaglobulinemia caused by biallelic PIK3CD mutations and loss of function of p110delta. At least 2 studies have reported this condition in 3 Pakistani boys from 2 unrelated families (PMID: 30040974, 30336224). It is characterized by early childhood onset of recurrent infections, mostly of the respiratory tract, but some may develop osteomyelitis or inflammatory bowel disease. Immunophenotyping showed hypogammaglobulinemia and decreased B cell counts. Although NK cell and T cell numbers were normal, there was some evidence of impaired immune-mediated cytotoxicity and defective T-cell function.

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Decreased IgA levelsarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Decreased IgG levelsarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
3 Reduced number of B cellsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
4 Recurrent pneumoniaarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
5 Recurrent sinusitisarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
6 Reduced natural killer cell activityarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
7 Esophageal candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Childhood onsetarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
9 Chronic diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Colitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Decreased IgM levelsarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
12 Infantile onsetarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
13 Inflammation of the large intestinearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Juvenile onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Leukocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Monocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Neutrophiliaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Polyarthritisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Thrombocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.